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These mate pairs are grouped according to the target superscaffold.
These mate pairs are used to estimate the distance d k between the two contigs.
These regions which were masked by Ns often occur at low coverage area where two contigs or mate pairs are connected during scaffolding.
The two ends of each DNA fragment (paired end reads or mate pairs) are then sequenced and finally get mapped back to the reference sequence.
Structural variation between individuals may also cause lower coverage in the human data as the contigs are built on simulated reads from the reference genome, while the mate pairs are real data.
Thus, o i = o j and we get the following constraints: (1) (2) where the indicator variable I k is used to relax the constraints because if the mate pairs are not satisfied in the solution, then the orientations may not match either.
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Libraries constructed for paired ends and mate pairs were sequenced with HiSeq2,000 (Illumina Inc., San Diego, California).
It is noteworthy that the percentage of properly mapping mate pairs was lower than for paired ends, as the larger span of a mate pair makes it more likely to map across different scaffolds.
In the case of simulated reads, the true distance between mate pairs is known exactly and the reference is perfect.
Matched trace files and the corresponding mate pairs were manually assembled using computer software (SeqMan, Lasergene 6.0, Madison, WI).
In addition all mate pairs were excluded from analysis if one of the mate pairs was rejected by Trimmomatic.
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